ClinVar Miner

List of variants in gene PKHD1 reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 121
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593 0.00066
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661 0.00054
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg) rs112030234 0.00049
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser) rs146102132 0.00048
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys) rs144042993 0.00035
NM_138694.4(PKHD1):c.1643A>G (p.Lys548Arg) rs145163993 0.00030
NM_138694.4(PKHD1):c.6710G>A (p.Arg2237Lys) rs144673879 0.00025
NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp) rs143867809 0.00019
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys) rs200986136 0.00018
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn) rs140419956 0.00016
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn) rs760056303 0.00016
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His) rs371329493 0.00011
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr) rs138242579 0.00011
NM_138694.4(PKHD1):c.8120G>A (p.Gly2707Asp) rs201254195 0.00011
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) rs368351830 0.00010
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg) rs145789167 0.00009
NM_138694.4(PKHD1):c.880+5C>T rs759601015 0.00008
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile) rs565045703 0.00007
NM_138694.4(PKHD1):c.10252G>A (p.Ala3418Thr) rs776589273 0.00006
NM_138694.4(PKHD1):c.10940A>C (p.His3647Pro) rs139442289 0.00006
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp) rs560133266 0.00006
NM_138694.4(PKHD1):c.3703C>T (p.Arg1235Trp) rs376121326 0.00006
NM_138694.4(PKHD1):c.7567A>G (p.Ile2523Val) rs146962673 0.00006
NM_138694.4(PKHD1):c.9571A>C (p.Asn3191His) rs372102850 0.00005
NM_138694.4(PKHD1):c.1420C>A (p.His474Asn) rs760766190 0.00004
NM_138694.4(PKHD1):c.2961G>T (p.Leu987Phe) rs398124482 0.00004
NM_138694.4(PKHD1):c.3806T>C (p.Val1269Ala) rs1398646157 0.00004
NM_138694.4(PKHD1):c.4363G>A (p.Ala1455Thr) rs760665951 0.00004
NM_138694.4(PKHD1):c.4364C>A (p.Ala1455Asp) rs775246362 0.00004
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser) rs886061612 0.00003
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948 0.00003
NM_138694.4(PKHD1):c.12188A>G (p.His4063Arg) rs755769277 0.00003
NM_138694.4(PKHD1):c.1256T>C (p.Val419Ala) rs144526315 0.00003
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp) rs139770251 0.00003
NM_138694.4(PKHD1):c.2378G>A (p.Arg793His) rs138620202 0.00003
NM_138694.4(PKHD1):c.4011T>G (p.Asp1337Glu) rs760893545 0.00003
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly) rs377674026 0.00003
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr) rs142346881 0.00003
NM_138694.4(PKHD1):c.3775G>A (p.Asp1259Asn) rs894304918 0.00002
NM_138694.4(PKHD1):c.2090C>T (p.Thr697Met) rs377415956 0.00001
NM_138694.4(PKHD1):c.2695A>G (p.Thr899Ala) rs922828020 0.00001
NM_138694.4(PKHD1):c.3511C>G (p.Leu1171Val) rs554000894 0.00001
NM_138694.4(PKHD1):c.3728C>A (p.Thr1243Lys) rs774865280 0.00001
NM_138694.4(PKHD1):c.3779C>T (p.Ala1260Val) rs112182862 0.00001
NM_138694.4(PKHD1):c.4130A>C (p.Asn1377Thr) rs773345692 0.00001
NM_138694.4(PKHD1):c.5654C>T (p.Thr1885Ile) rs1391293548 0.00001
NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val) rs773010322 0.00001
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg) rs367678592 0.00001
NM_138694.4(PKHD1):c.9623C>T (p.Thr3208Ile) rs1263208576 0.00001
NM_138694.4(PKHD1):c.10150A>G (p.Asn3384Asp)
NM_138694.4(PKHD1):c.1016A>G (p.Glu339Gly)
NM_138694.4(PKHD1):c.10247A>G (p.Asp3416Gly)
NM_138694.4(PKHD1):c.10358C>T (p.Ser3453Phe)
NM_138694.4(PKHD1):c.10681A>G (p.Ile3561Val)
NM_138694.4(PKHD1):c.10940A>G (p.His3647Arg)
NM_138694.4(PKHD1):c.11068G>T (p.Ala3690Ser)
NM_138694.4(PKHD1):c.11319A>T (p.Arg3773Ser)
NM_138694.4(PKHD1):c.11383G>A (p.Asp3795Asn)
NM_138694.4(PKHD1):c.11477A>G (p.His3826Arg) rs1012338385
NM_138694.4(PKHD1):c.11692T>C (p.Ser3898Pro)
NM_138694.4(PKHD1):c.11888A>T (p.Glu3963Val)
NM_138694.4(PKHD1):c.12120A>C (p.Gln4040His)
NM_138694.4(PKHD1):c.12208A>C (p.Ile4070Leu)
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile) rs138672830
NM_138694.4(PKHD1):c.1321A>T (p.Thr441Ser)
NM_138694.4(PKHD1):c.1348G>A (p.Ala450Thr)
NM_138694.4(PKHD1):c.1408G>T (p.Gly470Cys)
NM_138694.4(PKHD1):c.1701A>C (p.Glu567Asp)
NM_138694.4(PKHD1):c.1771C>T (p.Pro591Ser)
NM_138694.4(PKHD1):c.1862T>A (p.Met621Lys)
NM_138694.4(PKHD1):c.1969C>G (p.Gln657Glu)
NM_138694.4(PKHD1):c.2014G>A (p.Gly672Arg)
NM_138694.4(PKHD1):c.2102A>G (p.Tyr701Cys)
NM_138694.4(PKHD1):c.2209T>A (p.Ser737Thr)
NM_138694.4(PKHD1):c.2297G>A (p.Gly766Glu)
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys) rs781698219
NM_138694.4(PKHD1):c.2490T>A (p.Asn830Lys)
NM_138694.4(PKHD1):c.2597C>G (p.Ser866Cys) rs776017473
NM_138694.4(PKHD1):c.259C>T (p.Pro87Ser)
NM_138694.4(PKHD1):c.2910T>G (p.Ser970Arg)
NM_138694.4(PKHD1):c.3237T>G (p.Asp1079Glu)
NM_138694.4(PKHD1):c.3402G>A (p.Met1134Ile)
NM_138694.4(PKHD1):c.3406T>A (p.Tyr1136Asn)
NM_138694.4(PKHD1):c.3410C>T (p.Thr1137Met)
NM_138694.4(PKHD1):c.3863G>T (p.Gly1288Val)
NM_138694.4(PKHD1):c.4066C>T (p.Leu1356Phe)
NM_138694.4(PKHD1):c.4282C>A (p.Pro1428Thr)
NM_138694.4(PKHD1):c.4465G>C (p.Asp1489His)
NM_138694.4(PKHD1):c.4525T>A (p.Leu1509Ile)
NM_138694.4(PKHD1):c.4538C>A (p.Ala1513Asp)
NM_138694.4(PKHD1):c.4559T>C (p.Val1520Ala)
NM_138694.4(PKHD1):c.472T>A (p.Trp158Arg)
NM_138694.4(PKHD1):c.5257G>A (p.Val1753Met)
NM_138694.4(PKHD1):c.5332G>A (p.Ala1778Thr)
NM_138694.4(PKHD1):c.5410C>G (p.Arg1804Gly)
NM_138694.4(PKHD1):c.5660A>C (p.Glu1887Ala)
NM_138694.4(PKHD1):c.5698C>A (p.Pro1900Thr)
NM_138694.4(PKHD1):c.5711A>G (p.Lys1904Arg)
NM_138694.4(PKHD1):c.5836G>A (p.Val1946Ile)
NM_138694.4(PKHD1):c.5885T>A (p.Ile1962Asn)
NM_138694.4(PKHD1):c.6506G>A (p.Cys2169Tyr)
NM_138694.4(PKHD1):c.6542G>A (p.Arg2181Lys)
NM_138694.4(PKHD1):c.6743G>A (p.Gly2248Glu)
NM_138694.4(PKHD1):c.6814T>C (p.Cys2272Arg)
NM_138694.4(PKHD1):c.6857G>A (p.Arg2286Lys)
NM_138694.4(PKHD1):c.7230C>A (p.Ser2410Arg)
NM_138694.4(PKHD1):c.7382C>T (p.Thr2461Ile)
NM_138694.4(PKHD1):c.7642G>A (p.Ala2548Thr)
NM_138694.4(PKHD1):c.7831C>T (p.Arg2611Cys)
NM_138694.4(PKHD1):c.7880C>A (p.Ser2627Tyr)
NM_138694.4(PKHD1):c.8072T>A (p.Phe2691Tyr)
NM_138694.4(PKHD1):c.8073C>A (p.Phe2691Leu)
NM_138694.4(PKHD1):c.8143G>T (p.Val2715Leu)
NM_138694.4(PKHD1):c.8258A>G (p.Asn2753Ser) rs749313015
NM_138694.4(PKHD1):c.8279G>A (p.Gly2760Glu)
NM_138694.4(PKHD1):c.9077G>T (p.Gly3026Val)
NM_138694.4(PKHD1):c.9581A>G (p.Lys3194Arg)
NM_138694.4(PKHD1):c.95T>C (p.Leu32Pro)
NM_138694.4(PKHD1):c.9820A>G (p.Lys3274Glu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.